Table 1 Demographic characteristics, clinical features, laboratory investigation, and genetic analysis of patients
Case | Clinical form of HPP | Sex | Age at onset of HPP | Symptom at first onset | Age at AA treatment introduction | Age at last follow-up | ALP before AA treatment (lower limit of standard value by age) | Genetic variants (NM_000478.6) | Family history of HPP | Orthopedic findings on X-ray | Renal calcification | Pain | Periodontal disease | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Mild childhood | M | 2 years | Foot pain | 5 year 0 months | 7 years 0 months | 197 (< 430) IU/L | c.613G>A (p.Ala205Thr)/c.1559delT (p.Leu520fs) | − | + | N.C | + | + | |||||||||||||
2 | Mild childhood | F | 0 years 6 months | Poor weight gain | 10 years 1 months | 12 years 0 months | 400 (< 470) IU/L | c.984_986delCTT (p.Phe327del) Heterozygous variant | − | + | − | + | − | |||||||||||||
3 | Mild childhood | M | 1 years | Premature loss of deciduous tooth | 1 years 5 months | 3 years 2 months | 79 (< 395) IU/L | c.526G>A (p.Ala176Thr)/c.920C>T (p.Pro307Leu) | − | + | − | − | + | |||||||||||||
4 | Mild childhood | M | 9 years 10 months | Pain in knee and hip | 11 years 5 months | 12 years 2 months | 421 (< 470) IU/L | c.1559delT (p.Leu520fs) Heterozygous variant | − | − | − | + | − | |||||||||||||
5 | Mild childhood | M | 7 years | Short stature | 10 years 4 months | 12 years 7 months | 359 (< 460) IU/L | c.382G>A (p.Val128Met)/c.529G>A (p.Ala177Thr) | + | + | − | + | − | |||||||||||||
6 | Mild childhood | F | 10 years | Knee pain | 17 years 1 months | 18 years 7 months | 135 (< 130) IU/L | c.382G>A (p.Val128Met)/c.529G>A (p.Ala177Thr) | + | + | − | + | − | |||||||||||||
7 | Mild childhood | M | 4 years 2 months | Premature loss of deciduous tooth | 4 years 3 months | 5 years 2 months | 113 (< 430) IU/L | c.572A>G (p.Glu191Gly)/c.1559delT (p.Leu520fs) | − | + | − | − | + | |||||||||||||
8 | Benign prenatal | M | At birth | Unequal length of limbs | 16 years 3 months | 21 years 1 months | 103 (< 270) IU/L | c.979T>C (p.Phe327Leu)/c1559delT (p.Leu520fs) | − | + | + | − | + | |||||||||||||
9 | Benign prenatal | F | At birth | Bilateral femur deformity | 1: 4 years 5 months 2: 6 years 3 months | 9 years 4 months | 157 (< 430) IU/L | c.568_570delAAC (p.Asn190del)/c.979T>C (p.Phe327Leu) | − | + | + | − | − | |||||||||||||
10 | Perinatal | F | At birth | Short limbs | At birth | 2 years 4 months | 8 (< 530) IU/L | c.1333T>C (p.Ser445Pro)/c.1559delT (p.Leu520fs) | − | + | N.C | − | − | |||||||||||||